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1.
Prenat Diagn ; 44(5): 653-656, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38504427

RESUMO

Autosomal recessive ROR2-Robinow syndrome is caused by pathogenic variants in the ROR2 gene. Fetal ultrasound done on our patient at 24 + 3/7 weeks gestation showed macrocephaly, brachycephaly, flat face, prominent forehead, mild frontal bossing, lower thoracic hemivertebrae, digital abnormalities and micropenis. Fetal trio whole exome sequencing done on amniocytes showed two pathogenic compound heterozygous variants in the ROR2 gene, c.1324 C > T; p.(Arg442*) maternally inherited and c.1366dup; p.(Leu456Profs*3) apparently de novo. c.1324 C > T; p.(Arg442*) is a nonsense variant resulting in protein truncation reported to be associated with RRS3. c.1366dup; p.(Leu456Profs*3) is a frameshift variant predicted to result in protein truncation reported to segregate with the disease in multiple affected individuals from a single large family with distal symphalangism of the fourth finger. Fetal autopsy following pregnancy termination showed a large head with low-set ears, facial abnormalities, mesomelic bone shortening, hemivertebra, fused S3 and S4 vertebral bodies, several fused rib heads and short penis with buried shaft.


Assuntos
Nanismo , Deformidades Congênitas dos Membros , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase , Ultrassonografia Pré-Natal , Anormalidades Urogenitais , Humanos , Feminino , Gravidez , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/diagnóstico por imagem , Adulto , Coluna Vertebral/anormalidades , Coluna Vertebral/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/diagnóstico por imagem , Dedos/anormalidades , Dedos/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/diagnóstico por imagem , Masculino , Sequenciamento do Exoma
2.
Infant Ment Health J ; 45(1): 11-21, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38140832

RESUMO

Mothers of infants born extremely preterm requiring prolonged medical intervention in the Neonatal Intensive Care Unit (NICU) are at high risk of developing stress. Parent-administered infant massage is a well-established, safe intervention for preterm infants with many developmental benefits, but the published literature has mostly examined its impact on infants and parents through self-reported or observational measures of stress. The aim of this study was to measure salivary cortisol, a biomarker for stress, in extremely preterm infants and their mothers immediately pre and post parent-administered infant massage in order to detect potential changes in physiologic stress. Twenty-two mother-infant dyads completed massage education with a physical or occupational therapist. All dyads provided salivary cortisol samples via buccal swab immediately pre- and post-massage at the second session. Of mothers determined to be "cortisol responders" (15/22), salivary cortisol levels were lower after massage (pre-minus post-level: -26.47 ng/dL, [CI = -4.40, -48.53], p = .016, paired t-test). Our primary findings include a clinically significant decrease (as measured by percent change) in maternal cortisol levels immediately post parent-administered massage, indicating decreased physiological stress. Integration of infant massage into NICU clinical practice may support maternal mental health, but further powered studies are necessary to confirm findings.


Las madres de infantes nacidos extremadamente prematuros en la Unidad de Cuidado Intensivo Neonatal (NICU) se encentran bajo alto riesgo de desarrollar estrés. El masaje que una madre le da al infante es una intervención segura, bien establecida, para infantes prematuros, con muchos beneficios de desarrollo, aunque la información publicada disponible ha examinado por la mayor parte el impacto del masaje en los infantes y progenitores por medio de medidas de estrés auto reportadas o de observación. El propósito de este estudio fue medir el cortisol salival, un biomarcador de estrés, en infantes extremadamente prematuros y sus madres inmediatamente antes y después del masaje que la madre le da, para detectar posibles cambios en el estrés fisiológico. Veintidós díadas madre-infante completaron 2 sesiones educativas de masaje con un terapeuta físico u ocupacional. Todas las díadas aportaron muestras de cortisol salival por medio de hisopado bucal inmediatamente antes y después del masaje en la segunda sesión. Los niveles de cortisol en infantes no fueron suficientes para el análisis. De las madres a quienes se les determinó haber dado "respuesta de cortisol" (15/22), los niveles de cortisol salival fueron más bajos después del masaje (nivel antes menos nivel después: −26.47 ng/dL, [CI = −4.40, −48.53]. p = .016, prueba-t pareada). Entre nuestros resultados primarios se incluye una baja clínicamente significativa (tal como fue medida por el cambio porcentual) en los niveles de cortisol materno inmediatamente después del masaje. Estos resultados sugieren que el masaje dado por la madre a infantes prematuros pudiera reducir el cortisol materno, un marcador fisiológico de estrés.


Assuntos
Hidrocortisona , Lactente Extremamente Prematuro , Lactente , Feminino , Recém-Nascido , Humanos , Pais/psicologia , Mães/psicologia , Unidades de Terapia Intensiva Neonatal , Massagem/métodos
3.
Emerg Infect Dis ; 29(11): 2325-2334, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37877591

RESUMO

Identifying persons who have newly acquired HIV infections is critical for characterizing the HIV epidemic direction. We analyzed pooled data from nationally representative Population-Based HIV Impact Assessment surveys conducted across 14 countries in Africa for recent infection risk factors. We included adults 15-49 years of age who had sex during the previous year and used a recent infection testing algorithm to distinguish recent from long-term infections. We collected risk factor information via participant interviews and assessed correlates of recent infection using multinomial logistic regression, incorporating each survey's complex sampling design. Compared with HIV-negative persons, persons with higher odds of recent HIV infection were women, were divorced/separated/widowed, had multiple recent sex partners, had a recent HIV-positive sex partner or one with unknown status, and lived in communities with higher HIV viremia prevalence. Prevention programs focusing on persons at higher risk for HIV and their sexual partners will contribute to reducing HIV incidence.


Assuntos
Infecções por HIV , Humanos , Adulto , Feminino , Masculino , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , África/epidemiologia , Fatores de Risco , Parceiros Sexuais , Coleta de Dados
4.
J Nutr ; 153(3): 733-740, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36805108

RESUMO

BACKGROUND: The effect of calorie restriction (CR) on cognitive function is not well understood, and the impact of the dietary patterns consumed during CR has not been investigated. OBJECTIVES: We analyzed the combined association of CR and dietary quality with spatial working memory (SWM) in healthy adults without obesity. METHODS: The Comprehensive Assessment of Long-term Effects of Reducing Intake of Energy (CALERIE) trial was a 2-y, multisite clinical trial. This trial was registered at clinicaltrials.gov as NCT00427193. Participants were randomized to a 25% reduction in EI (n = 143) or an ad libitum Control (n = 76). The Dietary Inflammatory Index (DII) and the Healthy Eating Index (HEI) captured dietary quality, with a lower DII and higher HEI score indicating a healthier diet. The Cambridge Neuropsychological Test Automated Battery battery was used to assess SWM. Longitudinal associations between each dietary pattern index and SWM for CR and Control were assessed by multivariable negative binomial models that included baseline, 12-mo, and 24-mo visits. RESULTS: Participants were aged 38.1 ± 7.2 y with a BMI of 25.1 ± 1.7 kg/m2. A total of 70% of the participants were female. Baseline mean DII and HEI scores were -0.15 (range: -3.77, 4.21) and 59.1 (24.1, 91.0) and did not differ between groups. Improvements in DII and HEI were significantly different between CR and Control over 2 y (both P-interaction = 0.001). In longitudinal analyses, there was no association of either index with SWM. Furthermore, though within-group improvements in SWM were observed at 12 mo, there was no statistically significant difference between CR (SWM errors: 9.0; 95% CI: 1.9, 41.6) and Control (11.7; 95% CI: 2.6, 53.5; P > 0.99), holding DII constant. Comparable results were observed at 24 mo and for the HEI. CONCLUSIONS: Dietary quality during CR was not associated with measures of SWM over 2 y in healthy adults without obesity. These results suggest that, in healthy populations, dietary patterns and CR may have a limited impact on working memory. Further research is required to understand the concurrent effect of these nutritional strategies.


Assuntos
Restrição Calórica , Memória de Curto Prazo , Adulto , Humanos , Feminino , Masculino , Ingestão de Energia , Dieta , Obesidade
5.
Prenat Diagn ; 43(7): 881-888, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37113105

RESUMO

OBJECTIVE: Ultrasound assessment of the fetal anatomy and fetal echocardiography are feasible in the first trimester of pregnancy. This study was designed to assess the performance of a comprehensive fetal anatomy assessment in a high-risk population at a tertiary fetal medicine unit. METHODS: A retrospective review of high-risk patients undergoing comprehensive fetal anatomy ultrasound assessment between 11 weeks and 13 + 6 weeks of gestation was conducted. Findings of the early anatomy ultrasound scan were compared with those of the second trimester anatomy scan, and birth outcomes or post-mortem results. RESULTS: Early anatomy ultrasounds were performed in 765 patients. The sensitivity of the scan for detecting fetal anomalies compared to the birth outcome was 80.5% (95% CI 73.5-86.3) and specificity was 93.1% (95%CI 90.6-95.2). Positive and negative predictive values were 78.5% (95% CI 71.4-84.6) and 93.9% (95% CI 91.4-95.8), respectively. The most missed and overdiagnosed abnormalities were ventricular septal defects. The second trimester ultrasound had sensitivity of 69.0% (95% CI 55.5-80.5) and specificity of 87.5% (95% CI 84.3-90.2). CONCLUSIONS: In a high-risk population, early assessments had similar performance metrics as the second trimester anatomy ultrasound. We advocate for a comprehensive fetal assessment in the care of high-risk pregnancies.


Assuntos
Feto , Ultrassonografia Pré-Natal , Gravidez , Feminino , Humanos , Primeiro Trimestre da Gravidez , Idade Gestacional , Ultrassonografia Pré-Natal/métodos , Feto/diagnóstico por imagem , Cuidado Pré-Natal
6.
BMC Public Health ; 23(1): 674, 2023 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-37041550

RESUMO

BACKGROUND: The study of the etiology of acute febrile illness (AFI) has historically been designed as a prevalence of pathogens detected from a case series. This strategy has an inherent unrealistic assumption that all pathogen detection allows for causal attribution, despite known asymptomatic carriage of the principal causes of acute febrile illness in most low- and middle-income countries (LMICs). We designed a semi-quantitative PCR in a modular format to detect bloodborne agents of acute febrile illness that encompassed common etiologies of AFI in the region, etiologies of recent epidemics, etiologies that require an immediate public health response and additional pathogens of unknown endemicity. We then designed a study that would delineate background levels of transmission in the community in the absence of symptoms to provide corrected estimates of attribution for the principal determinants of AFI. METHODS: A case-control study of acute febrile illness in patients ten years or older seeking health care in Iquitos, Loreto, Peru, was planned. Upon enrollment, we will obtain blood, saliva, and mid-turbinate nasal swabs at enrollment with a follow-up visit on day 21-28 following enrollment to attain vital status and convalescent saliva and blood samples, as well as a questionnaire including clinical, socio-demographic, occupational, travel, and animal contact information for each participant. Whole blood samples are to be simultaneously tested for 32 pathogens using TaqMan array cards. Mid-turbinate samples will be tested for SARS-CoV-2, Influenza A and Influenza B. Conditional logistic regression models will be fitted treating case/control status as the outcome and with pathogen-specific sample positivity as predictors to attain estimates of attributable pathogen fractions for AFI. DISCUSSION: The modular PCR platforms will allow for reporting of all primary results of respiratory samples within 72 h and blood samples within one week, allowing for results to influence local medical practice and enable timely public health responses. The inclusion of controls will allow for a more accurate estimate of the importance of specific prevalent pathogens as a cause of acute illness. STUDY REGISTRATION: Project 1791, Registro de Proyectos de Investigación en Salud Pública (PRISA), Instituto Nacional de Salud, Perú.


Assuntos
COVID-19 , Influenza Humana , Humanos , Peru , Influenza Humana/epidemiologia , Estudos de Casos e Controles , SARS-CoV-2 , Febre/epidemiologia , Reação em Cadeia da Polimerase , Instalações de Saúde , Teste para COVID-19
7.
Emerg Infect Dis ; 28(13): S34-S41, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36502419

RESUMO

Existing acute febrile illness (AFI) surveillance systems can be leveraged to identify and characterize emerging pathogens, such as SARS-CoV-2, which causes COVID-19. The US Centers for Disease Control and Prevention collaborated with ministries of health and implementing partners in Belize, Ethiopia, Kenya, Liberia, and Peru to adapt AFI surveillance systems to generate COVID-19 response information. Staff at sentinel sites collected epidemiologic data from persons meeting AFI criteria and specimens for SARS-CoV-2 testing. A total of 5,501 patients with AFI were enrolled during March 2020-October 2021; >69% underwent SARS-CoV-2 testing. Percentage positivity for SARS-CoV-2 ranged from 4% (87/2,151, Kenya) to 19% (22/115, Ethiopia). We show SARS-CoV-2 testing was successfully integrated into AFI surveillance in 5 low- to middle-income countries to detect COVID-19 within AFI care-seeking populations. AFI surveillance systems can be used to build capacity to detect and respond to both emerging and endemic infectious disease threats.


Assuntos
COVID-19 , Doenças Transmissíveis , Estados Unidos , Humanos , COVID-19/epidemiologia , SARS-CoV-2 , Teste para COVID-19 , Febre/epidemiologia
8.
Am J Hum Genet ; 105(5): 1005-1015, 2019 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-31630790

RESUMO

Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies are highly enriched for genes encoding microtubules and microtubule-associated proteins, and this enrichment highlights the critical role for these genes in cortical growth and gyrification. Using exome sequencing and family based rare variant analyses, we identified a homozygous variant (c.997C>T [p.Arg333Cys]) in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with microcephaly and developmental delay. GCP2 forms the multiprotein γ-tubulin ring complex (γ-TuRC) together with γ-tubulin and other GCPs to regulate the assembly of microtubules. By querying clinical exome sequencing cases and through GeneMatcher-facilitated collaborations, we found three additional families with bi-allelic variation and similarly affected phenotypes including a homozygous variant (c.1843G>C [p.Ala615Pro]) in two families and compound heterozygous variants consisting of one missense variant (c.889C>T [p.Arg297Cys]) and one splice variant (c.2025-2A>G) in another family. Brain imaging from all five affected individuals revealed varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, presumably caused by disruption of neuronal migration. Our data demonstrate that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder, and our data implicate GCP2 as a core component of γ-TuRC in neuronal migrating cells.


Assuntos
Variação Genética/genética , Lisencefalia/genética , Microcefalia/genética , Proteínas Associadas aos Microtúbulos/genética , Alelos , Encéfalo/metabolismo , Movimento Celular/genética , Criança , Exoma/genética , Feminino , Homozigoto , Humanos , Masculino , Microtúbulos/genética , Malformações do Sistema Nervoso/genética , Neurônios/metabolismo , Fenótipo , Tubulina (Proteína)/genética
9.
Clin Infect Dis ; 72(5): e128-e135, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33270101

RESUMO

BACKGROUND: Coronavirus disease 2019 (COVID-19) continues to cause significant morbidity and mortality worldwide. Correctional and detention facilities are at high risk of experiencing outbreaks. We aimed to evaluate cohort-based testing among detained persons exposed to laboratory-confirmed cases of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in order to identify presymptomatic and asymptomatic cases. METHODS: During 1-19 May 2020, 2 testing strategies were implemented in 12 tiers or housing units of the Cook County Jail, Chicago, Illinois. Detained persons were approached to participate in serial testing (n = 137) and offered tests at 3 time points over 14 days (day 1, days 3-5, and days 13-14). The second group was offered a single test and interview at the end of a 14-day quarantine period (day 14 group) (n = 87). RESULTS: 224 detained persons were approached for participation and, of these, 194 (87%) participated in ≥1 interview and 172 (77%) had ≥1 test. Of the 172 tested, 19 were positive for SARS-CoV-2. In the serial testing group, 17 (89%) new cases were detected, 16 (84%) on day 1, 1 (5%) on days 3-5, and none on days 13-14; in the day 14 group, 2 (11%) cases were identified. More than half (12/19; 63%) of the newly identified cases were presymptomatic or asymptomatic. CONCLUSIONS: Our findings highlight the utility of cohort-based testing promptly after initiating quarantine within a housing tier. Cohort-based testing efforts identified new SARS-CoV-2 asymptomatic and presymptomatic infections that may have been missed by symptom screening alone.


Assuntos
COVID-19 , Estabelecimentos Correcionais , Chicago/epidemiologia , Humanos , Illinois/epidemiologia , Minnesota , SARS-CoV-2
10.
Emerg Infect Dis ; 27(2): 421-429, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33395380

RESUMO

To assess transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in a detention facility experiencing a coronavirus disease outbreak and evaluate testing strategies, we conducted a prospective cohort investigation in a facility in Louisiana, USA. We conducted SARS-CoV-2 testing for detained persons in 6 quarantined dormitories at various time points. Of 143 persons, 53 were positive at the initial test, and an additional 58 persons were positive at later time points (cumulative incidence 78%). In 1 dormitory, all 45 detained persons initially were negative; 18 days later, 40 (89%) were positive. Among persons who were SARS-CoV-2 positive, 47% (52/111) were asymptomatic at the time of specimen collection; 14 had replication-competent virus isolated. Serial SARS-CoV-2 testing might help interrupt transmission through medical isolation and quarantine. Testing in correctional and detention facilities will be most effective when initiated early in an outbreak, inclusive of all exposed persons, and paired with infection prevention and control.


Assuntos
Teste para COVID-19/estatística & dados numéricos , COVID-19/epidemiologia , Surtos de Doenças/estatística & dados numéricos , Transmissão de Doença Infecciosa/estatística & dados numéricos , SARS-CoV-2/isolamento & purificação , Adulto , COVID-19/diagnóstico , COVID-19/transmissão , Feminino , Humanos , Incidência , Louisiana/epidemiologia , Masculino , Prisões , Estudos Prospectivos
11.
MMWR Morb Mortal Wkly Rep ; 70(1): 14-19, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33411699

RESUMO

During early August 2020, county-level incidence of coronavirus disease 2019 (COVID-19) generally decreased across the United States, compared with incidence earlier in the summer (1); however, among young adults aged 18-22 years, incidence increased (2). Increases in incidence among adults aged ≥60 years, who might be more susceptible to severe COVID-19-related illness, have followed increases in younger adults (aged 20-39 years) by an average of 8.7 days (3). Institutions of higher education (colleges and universities) have been identified as settings where incidence among young adults increased during August (4,5). Understanding the extent to which these settings have affected county-level COVID-19 incidence can inform ongoing college and university operations and future planning. To evaluate the effect of large colleges or universities and school instructional format* (remote or in-person) on COVID-19 incidence, start dates and instructional formats for the fall 2020 semester were identified for all not-for-profit large U.S. colleges and universities (≥20,000 total enrolled students). Among counties with large colleges and universities (university counties) included in the analysis, remote-instruction university counties (22) experienced a 17.9% decline in mean COVID-19 incidence during the 21 days before through 21 days after the start of classes (from 17.9 to 14.7 cases per 100,000), and in-person instruction university counties (79) experienced a 56.2% increase in COVID-19 incidence, from 15.3 to 23.9 cases per 100,000. Counties without large colleges and universities (nonuniversity counties) (3,009) experienced a 5.9% decline in COVID-19 incidence, from 15.3 to 14.4 cases per 100,000. Similar findings were observed for percentage of positive test results and hotspot status (i.e., increasing among in-person-instruction university counties). In-person instruction at colleges and universities was associated with increased county-level COVID-19 incidence and percentage test positivity. Implementation of increased mitigation efforts at colleges and universities could minimize on-campus COVID-19 transmission.


Assuntos
COVID-19/epidemiologia , Universidades/organização & administração , Adolescente , Adulto , COVID-19/diagnóstico , COVID-19/transmissão , Teste para COVID-19/estatística & dados numéricos , Humanos , Incidência , Pessoa de Meia-Idade , Estados Unidos/epidemiologia , Adulto Jovem
12.
J Clin Microbiol ; 58(10)2020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32719029

RESUMO

Campylobacter jejuni is a leading cause of enteric bacterial illness in the United States. Traditional molecular subtyping methods, such as pulsed-field gel electrophoresis (PFGE) and 7-gene multilocus sequence typing (MLST), provided limited resolution to adequately identify C. jejuni outbreaks and separate out sporadic isolates during outbreak investigations. Whole-genome sequencing (WGS) has emerged as a powerful tool for C. jejuni outbreak detection. In this investigation, 45 human and 11 puppy isolates obtained during a 2016-2018 outbreak linked to pet store puppies were sequenced. Core genome multilocus sequence typing (cgMLST) and high-quality single nucleotide polymorphism (hqSNP) analysis of the sequence data separated the isolates into the same two clades containing minor within-clade differences; however, cgMLST analysis does not require selection of an appropriate reference genome, making the method preferable to hqSNP analysis for Campylobacter surveillance and cluster detection. The isolates were classified as sequence type 2109 (ST2109)-a rarely seen MLST sequence type. PFGE was performed on 38 human and 10 puppy isolates; PFGE patterns did not reliably predict clustering by cgMLST analysis. Genetic detection of antimicrobial resistance determinants predicted that all outbreak-associated isolates would be resistant to six drug classes. Traditional antimicrobial susceptibility testing (AST) confirmed a high correlation between genotypic and phenotypic antimicrobial resistance determinations. WGS analysis linked C. jejuni isolates in humans and pet store puppies even when canine exposure information was unknown, aiding the epidemiological investigation during the outbreak. WGS data were also used to quickly identify the highly drug-resistant profile of these outbreak-associated C. jejuni isolates.


Assuntos
Infecções por Campylobacter , Campylobacter jejuni , Preparações Farmacêuticas , Animais , Antibacterianos/farmacologia , Infecções por Campylobacter/epidemiologia , Infecções por Campylobacter/veterinária , Campylobacter jejuni/genética , Surtos de Doenças , Cães , Farmacorresistência Bacteriana , Eletroforese em Gel de Campo Pulsado , Genótipo , Humanos , Tipagem de Sequências Multilocus
13.
Am J Hum Genet ; 99(5): 1005-1014, 2016 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-27745832

RESUMO

Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition. In 17 of these families, we identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (2 families), contiguous genes in the mapped locus that encode subunits C1r and C1s of the first component of the classical complement pathway. These two proteins form a heterotetramer that then combines with six C1q subunits. Pathogenic variants involve the subunit interfaces or inter-domain hinges of C1r and C1s and are associated with intracellular retention and mild endoplasmic reticulum enlargement. Clinical features of affected individuals in these families include rapidly progressing periodontitis with onset in the teens or childhood, a previously unrecognized lack of attached gingiva, pretibial hyperpigmentation, skin and vascular fragility, easy bruising, and variable musculoskeletal symptoms. Our findings open a connection between the inflammatory classical complement pathway and connective tissue homeostasis.


Assuntos
Complemento C1r/genética , Complemento C1s/genética , Síndrome de Ehlers-Danlos/genética , Deleção de Genes , Mutação de Sentido Incorreto , Periodontite/genética , Adolescente , Adulto , Criança , Pré-Escolar , Mapeamento Cromossômico , Cromossomos Humanos Par 12/genética , Síndrome de Ehlers-Danlos/diagnóstico , Retículo Endoplasmático/genética , Retículo Endoplasmático/metabolismo , Exoma , Feminino , Loci Gênicos , Humanos , Masculino , Linhagem , Periodontite/diagnóstico , Conformação Proteica , Adulto Jovem
14.
MMWR Morb Mortal Wkly Rep ; 68(25): 568-572, 2019 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-31246941

RESUMO

Cryptosporidium is a parasite that causes cryptosporidiosis, a profuse, watery diarrhea that can last up to 3 weeks in immunocompetent patients and can lead to life-threatening malnutrition and wasting in immunocompromised patients.* Fecal-oral transmission can occur by ingestion of contaminated recreational water, drinking water, or food, or through contact with infected persons or animals. For the period 2009-2017, public health officials from 40 states and Puerto Rico voluntarily reported 444 cryptosporidiosis outbreaks resulting in 7,465 cases. Exposure to treated recreational water (e.g., in pools and water playgrounds) was associated with 156 (35.1%) outbreaks resulting in 4,232 (56.7%) cases. Other predominant outbreak exposures included contact with cattle (65 outbreaks; 14.6%) and contact with infected persons in child care settings (57; 12.8%). The annual number of reported cryptosporidiosis outbreaks overall increased an average of approximately 13% per year over time. Reversing this trend will require dissemination of prevention messages to discourage swimming or attending child care while ill with diarrhea and encourage hand washing after contact with animals. Prevention and control measures can be optimized by improving understanding of Cryptosporidium transmission through regular analysis of systematically collected epidemiologic and molecular characterization data.


Assuntos
Criptosporidiose/epidemiologia , Surtos de Doenças/estatística & dados numéricos , Animais , Bovinos , Doenças dos Bovinos/microbiologia , Creches , Pré-Escolar , Criptosporidiose/transmissão , Cryptosporidium/isolamento & purificação , Diarreia/microbiologia , Humanos , Lactente , Piscinas , Estados Unidos/epidemiologia , Microbiologia da Água
15.
MMWR Morb Mortal Wkly Rep ; 67(37): 1032-1035, 2018 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-30235182

RESUMO

Campylobacter causes an estimated 1.3 million diarrheal illnesses in the United States annually (1). In August 2017, the Florida Department of Health notified CDC of six Campylobacter jejuni infections linked to company A, a national pet store chain based in Ohio. CDC examined whole-genome sequencing (WGS) data and identified six isolates from company A puppies in Florida that were highly related to an isolate from a company A customer in Ohio. This information prompted a multistate investigation by local and state health and agriculture departments and CDC to identify the outbreak source and prevent additional illness. Health officials from six states visited pet stores to collect puppy fecal samples, antibiotic records, and traceback information. Nationally, 118 persons, including 29 pet store employees, in 18 states were identified with illness onset during January 5, 2016-February 4, 2018. In total, six pet store companies were linked to the outbreak. Outbreak isolates were resistant by antibiotic susceptibility testing to all antibiotics commonly used to treat Campylobacter infections, including macrolides and quinolones. Store record reviews revealed that among 149 investigated puppies, 142 (95%) received one or more courses of antibiotics, raising concern that antibiotic use might have led to development of resistance. Public health authorities issued infection prevention recommendations to affected pet stores and recommendations for testing puppies to veterinarians. This outbreak demonstrates that puppies can be a source of multidrug-resistant Campylobacter infections in humans, warranting a closer look at antimicrobial use in the commercial dog industry.


Assuntos
Infecções por Campylobacter/epidemiologia , Campylobacter jejuni/efeitos dos fármacos , Surtos de Doenças , Cães/microbiologia , Farmacorresistência Bacteriana Múltipla , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Infecções por Campylobacter/tratamento farmacológico , Infecções por Campylobacter/prevenção & controle , Campylobacter jejuni/isolamento & purificação , Criança , Pré-Escolar , Busca de Comunicante , Surtos de Doenças/prevenção & controle , Fezes/microbiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estados Unidos/epidemiologia , Adulto Jovem , Zoonoses
16.
J Genet Couns ; 27(5): 1130-1147, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29516345

RESUMO

The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amniocentesis). We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question, soliciting factors that may have influenced the participants' decision to accept prenatal CMA; these responses were analyzed qualitatively. Data analysis on 106 participants indicated that 49% made an informed decision (i.e., meeting all three criteria of knowledgeable, deliberated, and value-consistent). Analysis of 59 responses to the open-ended question showed that "the more information the better" emerged as the dominant factor influencing both informed and uninformed participants' decisions to accept prenatal CMA. Despite learning about the key issues in pre-test genetic counseling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge, lack of deliberation, value-inconsistency, or a combination of these three measures. Future efforts should focus on developing educational approaches and counseling strategies to effectively increase the rate of informed decision-making among women offered prenatal CMA.


Assuntos
Aberrações Cromossômicas , Tomada de Decisões , Diagnóstico Pré-Natal/psicologia , Adolescente , Adulto , Amniocentese , Síndrome de Down/genética , Feminino , Aconselhamento Genético/psicologia , Testes Genéticos/métodos , Humanos , Defeitos do Tubo Neural/genética , Gravidez
17.
Emerg Infect Dis ; 23(13)2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29155664

RESUMO

Zoonotic diseases represent critical threats to global health security. Effective mitigation of the impact of endemic and emerging zoonotic diseases of public health importance requires multisectoral collaboration and interdisciplinary partnerships. The US Centers for Disease Control and Prevention created the One Health Zoonotic Disease Prioritization Tool to help countries identify zoonotic diseases of greatest national concern using input from representatives of human health, agriculture, environment, and wildlife sectors. We review 7 One Health Zoonotic Disease Prioritization Tool workshops conducted during 2014-2016, highlighting workshop outcomes, lessons learned, and shared themes from countries implementing this process. We also describe the tool's ability to help countries focus One Health capacity-building efforts to appropriately prevent, detect, and respond to zoonotic disease threats.


Assuntos
Fortalecimento Institucional , Saúde Global , Prioridades em Saúde , Zoonoses/epidemiologia , Animais , Humanos , Zoonoses/prevenção & controle
18.
Am J Obstet Gynecol ; 220(1): 120, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30171844
19.
PLOS Glob Public Health ; 4(4): e0003115, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38635502

RESUMO

Acute febrile illness (AFI) is a broad clinical syndrome with a wide range of potential infectious etiologies. The lack of accessible, standardized approaches to conducting AFI etiologic investigations has contributed to significant global gaps in data on the epidemiology of AFI. Based on lessons learned from years of supporting AFI sentinel surveillance worldwide, the U.S. Centers for Disease Control and Prevention developed the toolkit for planning and implementing AFI surveillance, described here. This toolkit provides a comprehensive yet flexible framework to guide researchers, public health officials, and other implementers in developing a strategy to identify and/or monitor the potential causes of AFI. The toolkit comprises a cohesive set of planning aids and supporting materials, including an implementation framework, generic protocol, several generic forms (including screening, case report, specimen collection and testing, and informed consent and assent), and a generic data dictionary. These materials incorporate key elements intended to harmonize approaches for AFI surveillance, as well as setting-specific components and considerations for adaptation based on local surveillance objectives and limitations. Appropriate adaptation and implementation of this toolkit may generate data that expand the global AFI knowledge base, strengthen countries' surveillance and laboratory capacity, and enhance outbreak detection and response efforts.

20.
World Neurosurg ; 185: e758-e766, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38432509

RESUMO

BACKGROUND: Polypharmacy and opioid administration are thought to increase the risk of postoperative cognitive dysfunction and delirium in elderly patients. Spinal anesthesia (SA) holds potential to reduce perioperative polypharmacy in spine surgery. As more geriatric patients undergo spine surgery, understanding how SA can reduce polypharmacy and opioid administration is warranted. We aim to compare the perioperative polypharmacy and dose of administered opioids in patients ≥65 years who undergo transforaminal lumbar interbody fusion (TLIF) under SA versus general anesthesia (GA). METHODS: A retrospective analysis of 200 patients receiving a single-surgeon TLIF procedure at a single academic center (2014-2021) was performed. Patients underwent the procedure with SA (n = 120) or GA (n = 80). Demographic, procedural, and medication data were extracted from the medical record. Opioid consumption was quantified as morphine milligram equivalents (MME). Statistical analyses included χ2 or Student's t-test. RESULTS: Patients receiving SA were administered 7.45 medications on average versus 12.7 for GA patients (P < 0.001). Average perioperative opioid consumption was 5.17 MME and 20.2 MME in SA and GA patients, respectively (P < 0.001). The number of patients receiving antiemetics and opioids remained comparable postoperatively, with a mean of 32.2 MME in the GA group versus 27.5 MME in the SA group (P = 0.14). Antiemetics were administered less often as a prophylactic in the SA group (32%) versus 86% in the GA group (P < 0.001). CONCLUSIONS: SA reduces perioperative polypharmacy in patients ≥65 years undergoing TLIF procedures. Further research is necessary to determine if this reduction correlates to a decrease the incidence of postoperative cognitive dysfunction and delirium.


Assuntos
Analgésicos Opioides , Raquianestesia , Vértebras Lombares , Polimedicação , Fusão Vertebral , Humanos , Fusão Vertebral/métodos , Analgésicos Opioides/uso terapêutico , Analgésicos Opioides/administração & dosagem , Idoso , Masculino , Feminino , Estudos Retrospectivos , Raquianestesia/métodos , Vértebras Lombares/cirurgia , Idoso de 80 Anos ou mais , Anestesia Geral/métodos , Dor Pós-Operatória/tratamento farmacológico , Dor Pós-Operatória/prevenção & controle
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